A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694399



Internal ID21720720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50517933..50517933hg38UCSC Ensembl
chr12:50911716..50911716hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190928, nssv17226313
Samples
Known GenesDIP2B
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5694399
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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